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Journal Abstract Search

147 related items for PubMed ID: 22310962

  • 1. Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome.
    Kurban M, Kim CA, Kiuru M, Fantauzzo K, Cabral R, Abbas O, Levy B, Christiano AM.
    Dermatology; 2011; 223(4):316-20. PubMed ID: 22310962
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  • 2. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.
    Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH.
    Eur J Med Genet; 2013 Dec; 56(12):678-82. PubMed ID: 24176758
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  • 4. Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil.
    Ohko K, Nakajima K, Nakajima H, Hiraki Y, Kubota K, Fukao T, Miyatake S, Matsumoto N, Sano S.
    J Dermatol; 2020 Mar; 47(3):306-310. PubMed ID: 31907964
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  • 6. Aortic aneurysm and craniosynostosis in a family with Cantu syndrome.
    Hiraki Y, Miyatake S, Hayashidani M, Nishimura Y, Matsuura H, Kamada M, Kawagoe T, Yunoki K, Okamoto N, Yofune H, Nakashima M, Tsurusaki Y, Satisu H, Murakami A, Miyake N, Nishimura G, Matsumoto N.
    Am J Med Genet A; 2014 Jan; 164A(1):231-6. PubMed ID: 24352916
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  • 7. Cantu syndrome: A longitudinal review of vascular findings in three individuals.
    Parrott A, Lombardo R, Brown N, Tretter JT, Riley L, Weaver KN.
    Am J Med Genet A; 2020 May; 182(5):1243-1248. PubMed ID: 32065455
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  • 8. Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.
    Czeschik JC, Voigt C, Goecke TO, Lüdecke HJ, Wagner N, Kuechler A, Wieczorek D.
    Am J Med Genet A; 2013 Feb; 161A(2):295-300. PubMed ID: 23307537
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  • 9. Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature.
    Daas F, Gupta P, Kiblawi F.
    BMC Pediatr; 2023 Dec 19; 23(1):644. PubMed ID: 38114927
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  • 10. Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations.
    Engels H, Bosse K, Ehrbrecht A, Zahn S, Hoischen A, Propping P, Bindl L, Reutter H.
    Am J Med Genet; 2002 Aug 01; 111(2):205-9. PubMed ID: 12210352
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  • 11. Clinical and Molecular Delineation of a Novel Cys1050Phe Missense Mutation in the ABCC9 Gene in a Korean Patient with Cantú Syndrome.
    Kim H, Kim S, Jeon H, Kim J, Yoo J, Seong M, Park S.
    Clin Lab; 2017 May 01; 63(5):991-995. PubMed ID: 28627835
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  • 14. Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome.
    Rosser EM, Kaariainen H, Hurst JA, Baraitser M, Hall CM, Clayton P, Leonard JV.
    Clin Dysmorphol; 1998 Apr 01; 7(2):79-85. PubMed ID: 9571276
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  • 16. First Japanese case of congenital generalized hypertrichosis with a copy number variation on chromosome 17q24.
    Hayashi R, Yoshida K, Abe R, Niizeki H, Shimomura Y.
    J Dermatol Sci; 2017 Jan 01; 85(1):63-65. PubMed ID: 27780627
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  • 17. Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.
    Scurr I, Wilson L, Lees M, Robertson S, Kirk E, Turner A, Morton J, Kidd A, Shashi V, Stanley C, Berry M, Irvine AD, Goudie D, Turner C, Brewer C, Smithson S.
    Am J Med Genet A; 2011 Mar 01; 155A(3):508-18. PubMed ID: 21344641
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